Variant report

Variant	nsv558334
Chromosome Location	chr12:34788908-34845175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
2	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
3	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
4	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
5	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
6	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
7	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
8	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:

No data

Extended variants
information (count: 4778 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:4778 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12822359	chr12:34788908-34788909	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184020945	chr12:34788909-34788910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73109623	chr12:34788920-34788921	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568437457	chr12:34788935-34788936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549553372	chr12:34788984-34788985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76572114	chr12:34788998-34788999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189713922	chr12:34789025-34789026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs71459549	chr12:34789026-34789027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78778047	chr12:34789038-34789039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11502502	chr12:34789066-34789067	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181875873	chr12:34789077-34789078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145221394	chr12:34789086-34789087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376272505	chr12:34789087-34789088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561558856	chr12:34789098-34789099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs370935921	chr12:34789102-34789103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201800397	chr12:34789116-34789117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145011202	chr12:34789132-34789133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186953297	chr12:34789173-34789174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533008736	chr12:34789187-34789188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190286942	chr12:34789201-34789202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560378252	chr12:34789211-34789212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78642479	chr12:34789219-34789220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540977906	chr12:34789254-34789255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549237340	chr12:34789256-34789257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568396509	chr12:34789268-34789269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537467885	chr12:34789271-34789272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553024164	chr12:34789286-34789287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs142116333	chr12:34789308-34789309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181732344	chr12:34789337-34789338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs80341314	chr12:34789338-34789339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs553198843	chr12:34789353-34789354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573366767	chr12:34789357-34789358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs151132416	chr12:34789361-34789362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75001434	chr12:34789398-34789399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75635545	chr12:34789399-34789400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79447711	chr12:34789403-34789404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78303491	chr12:34789405-34789406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76411835	chr12:34789408-34789409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79791219	chr12:34789410-34789411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75636418	chr12:34789414-34789415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76786278	chr12:34789417-34789418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79081612	chr12:34789435-34789436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79164268	chr12:34789446-34789447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556044017	chr12:34789455-34789456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575822499	chr12:34789458-34789459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140230406	chr12:34789461-34789462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77081562	chr12:34789472-34789473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73325531	chr12:34789477-34789478	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186358220	chr12:34789495-34789496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189585323	chr12:34789511-34789512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34785600-34792600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr12:34786600-34789200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:34798800-34802200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:34799000-34799400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:34799000-34799400	ZNF genes & repeats	Colon Smooth Muscle	Colon
7	chr12:34799000-34802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr12:34799000-34803600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr12:34799000-34805200	ZNF genes & repeats	Liver	Liver
10	chr12:34799200-34799400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:34799200-34799400	ZNF genes & repeats	Fetal Lung	lung
12	chr12:34799200-34799400	ZNF genes & repeats	GM12878-XiMat	blood
13	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr12:34800400-34800800	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr12:34801400-34801800	Active TSS	Fetal Heart	heart
16	chr12:34801400-34801800	ZNF genes & repeats	Left Ventricle	heart
17	chr12:34801400-34802600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:34801600-34801800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:34801600-34801800	ZNF genes & repeats	Brain Angular Gyrus	brain
20	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr12:34812800-34816800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:34825400-34826000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr12:34825600-34826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:34825600-34826000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr12:34830800-34832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:34830800-34832400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr12:34831200-34832000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:34831400-34832200	ZNF genes & repeats	HUVEC	blood vessel
33	chr12:34831600-34833800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr12:34831800-34832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:34831800-34832200	ZNF genes & repeats	K562	blood
38	chr12:34831800-34833200	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:34832000-34832200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr12:34832000-34832200	ZNF genes & repeats	Fetal Kidney	kidney
41	chr12:34832000-34832400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:34832000-34833200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:34832000-34833600	ZNF genes & repeats	NH-A	brain
44	chr12:34832200-34833200	Weak transcription	Fetal Kidney	kidney
45	chr12:34832200-34833200	Weak transcription	HUVEC	blood vessel
46	chr12:34832200-34833200	Weak transcription	K562	blood
47	chr12:34832400-34833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:34832400-34833200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:34832600-34833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:34832600-34833800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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